Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000376835 [[24929865, 24930211], [24937922, 24938095], [24939563, 24939680], [24940270, 24940562]] [[24930075, 24930211], [24937922, 24938095], [24939563, 24939680], [24940270, 24940348]]
ENST00000480798 [[24929865, 24930211], [24937922, 24938095], [24939563, 24939680], [24940270, 24940564]] [[24930141, 24930211], [24937922, 24938095], [24939563, 24939680], [24940270, 24940348]]
NM_003650 [[24929865, 24930211], [24937922, 24938095], [24939563, 24939680], [24940270, 24940564]] [[24930141, 24930211], [24937922, 24938095], [24939563, 24939680], [24940270, 24940348]]
Promoter
Chrom Start End Description
chr20 24929892 24929918 CAGE_peak_1_at_CST7_5end
chr20 24929935 24929964 CAGE_peak_2_at_CST7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I025198 25198739 25199482 0.54 [{'connected_gene': 'ENTPD6', 'score': 12.19}, {'connected_gene': 'PYGB', 'score': 11.54}, {'connected_gene': 'ACSS1', 'score': 10.42}, {'connected_gene': 'CST7', 'score': 4.33}, {'connected_gene': 'LOC101926889', 'score': 0.77}, {'connected_gene': 'ENSG00000202414', 'score': 0.37}]
chr20 GH20I025194 25194657 25198084 2.23 [{'connected_gene': 'ENTPD6', 'score': 562.83}, {'connected_gene': 'LOC101926889', 'score': 550.77}, {'connected_gene': 'PYGB', 'score': 31.27}, {'connected_gene': 'FAM182B', 'score': 16.63}, {'connected_gene': 'NINL', 'score': 13.28}, {'connected_gene': 'ABHD12', 'score': 12.27}, {'connected_gene': 'ACSS1', 'score': 11.31}, {'connected_gene': 'VN1R108P', 'score': 9.8}, {'connected_gene': 'VSX1', 'score': 7.83}, {'connected_gene': 'CST7', 'score': 5.21}]
chr20 GH20I025048 25048241 25049961 1.04 [{'connected_gene': 'CST7', 'score': 7.45}, {'connected_gene': 'ENTPD6', 'score': 6.42}, {'connected_gene': 'ACSS1', 'score': 0.44}, {'connected_gene': 'PIR53263', 'score': 0.44}]
chr20 GH20I024984 24984401 24986800 0.74 [{'connected_gene': 'CST7', 'score': 19.85}, {'connected_gene': 'ACSS1', 'score': 11.58}, {'connected_gene': 'APMAP', 'score': 7.23}, {'connected_gene': 'VN1R108P', 'score': 5.39}, {'connected_gene': 'VSX1', 'score': 4.39}, {'connected_gene': 'RNU6-1257P', 'score': 0.39}]
chr20 GH20I024507 24507577 24508096 0.4 [{'connected_gene': 'CST7', 'score': 5.15}, {'connected_gene': 'ENSG00000270001', 'score': 5.13}, {'connected_gene': 'ENSG00000228539', 'score': 0.44}, {'connected_gene': 'SYNDIG1', 'score': 0.28}, {'connected_gene': 'GC20M024591', 'score': 0.16}]
chr20 GH20I024948 24948589 24956969 1.91 [{'connected_gene': 'CST7', 'score': 573.09}, {'connected_gene': 'APMAP', 'score': 19.14}, {'connected_gene': 'ACSS1', 'score': 10.78}, {'connected_gene': 'VN1R108P', 'score': 5.63}, {'connected_gene': 'PYGB', 'score': 4.79}, {'connected_gene': 'PIR45392', 'score': 0.39}]
chr20 GH20I025022 25022420 25023512 0.72 [{'connected_gene': 'CST7', 'score': 12.39}, {'connected_gene': 'PIR53263', 'score': 0.37}, {'connected_gene': 'APMAP', 'score': 0.31}, {'connected_gene': 'ACSS1', 'score': 0.28}]
chr20 GH20I025019 25019767 25020288 0.2 [{'connected_gene': 'CST7', 'score': 7.11}, {'connected_gene': 'APMAP', 'score': 6.6}, {'connected_gene': 'PIR53263', 'score': 0.37}, {'connected_gene': 'ACSS1', 'score': 0.28}]
chr20 GH20I025024 25024738 25028196 0.46 [{'connected_gene': 'CST7', 'score': 11.84}, {'connected_gene': 'APMAP', 'score': 6.29}, {'connected_gene': 'PIR53263', 'score': 0.39}, {'connected_gene': 'ACSS1', 'score': 0.29}]
chr20 GH20I024969 24969346 24973202 0.38 [{'connected_gene': 'CST7', 'score': 19.04}, {'connected_gene': 'APMAP', 'score': 7.97}, {'connected_gene': 'VN1R108P', 'score': 5.39}, {'connected_gene': 'GC20P024974', 'score': 0.77}, {'connected_gene': 'PIR45392', 'score': 0.44}]
chr20 GH20I024996 24996762 24997732 0.4 [{'connected_gene': 'CST7', 'score': 14.75}, {'connected_gene': 'APMAP', 'score': 7.13}, {'connected_gene': 'PIR53263', 'score': 0.26}]
chr20 GH20I025000 25000025 25001254 1.22 [{'connected_gene': 'CST7', 'score': 8.08}, {'connected_gene': 'APMAP', 'score': 7.42}, {'connected_gene': 'PIR53263', 'score': 0.28}]
chr20 GH20I024994 24994465 24995514 1.27 [{'connected_gene': 'CST7', 'score': 18.95}, {'connected_gene': 'ZNF337', 'score': 15.75}, {'connected_gene': 'NINL', 'score': 10.09}, {'connected_gene': 'APMAP', 'score': 8.29}, {'connected_gene': 'PIR53263', 'score': 0.26}]
chr20 GH20I024716 24716344 24724930 0.54 [{'connected_gene': 'CST7', 'score': 6.94}, {'connected_gene': 'ENSG00000231015', 'score': 0.26}, {'connected_gene': 'PIR56829', 'score': 0.08}]
chr20 GH20I025029 25029938 25034673 1.74 [{'connected_gene': 'ACSS1', 'score': 568.29}, {'connected_gene': 'CST7', 'score': 12.29}, {'connected_gene': 'APMAP', 'score': 6.13}, {'connected_gene': 'FAM182B', 'score': 4.75}, {'connected_gene': 'PIR53263', 'score': 0.44}]
chr20 GH20I025013 25013482 25014311 0.2 [{'connected_gene': 'ACSS1', 'score': 12.37}, {'connected_gene': 'CST7', 'score': 10.77}, {'connected_gene': 'APMAP', 'score': 6.12}, {'connected_gene': 'PIR53263', 'score': 0.31}]
chr20 GH20I025006 25005265 25005454 0.66 [{'connected_gene': 'ACSS1', 'score': 12.15}, {'connected_gene': 'CST7', 'score': 8.06}, {'connected_gene': 'APMAP', 'score': 6.39}, {'connected_gene': 'PIR53263', 'score': 0.29}]
chr20 GH20I025005 25005600 25007136 0.2 [{'connected_gene': 'ACSS1', 'score': 12.15}, {'connected_gene': 'CST7', 'score': 10.65}, {'connected_gene': 'APMAP', 'score': 0.39}, {'connected_gene': 'PIR53263', 'score': 0.29}]
chr20 GH20I025007 25007929 25013070 0.65 [{'connected_gene': 'ACSS1', 'score': 12.37}, {'connected_gene': 'CST7', 'score': 12.12}, {'connected_gene': 'APMAP', 'score': 6.63}, {'connected_gene': 'PIR53263', 'score': 0.31}]
chr20 GH20I025051 25051671 25060101 2.4 [{'connected_gene': 'ACSS1', 'score': 558.24}, {'connected_gene': 'VSX1', 'score': 11.47}, {'connected_gene': 'CST7', 'score': 7.78}, {'connected_gene': 'ENTPD6', 'score': 6.63}, {'connected_gene': 'FAM182B', 'score': 5.53}, {'connected_gene': 'ZNF337', 'score': 5.25}, {'connected_gene': 'NINL', 'score': 4.02}, {'connected_gene': 'PIR53263', 'score': 0.37}]
chr20 GH20I025190 25190928 25192331 0.58 [{'connected_gene': 'PYGB', 'score': 11.14}, {'connected_gene': 'ACSS1', 'score': 10.8}, {'connected_gene': 'ENTPD6', 'score': 5.63}, {'connected_gene': 'VSX1', 'score': 5.54}, {'connected_gene': 'CST7', 'score': 4.84}, {'connected_gene': 'LOC101926889', 'score': 0.44}, {'connected_gene': 'LOC100128078', 'score': 0.31}]
chr20 GH20I024989 24989063 24994234 2.27 [{'connected_gene': 'APMAP', 'score': 558.48}, {'connected_gene': 'CST7', 'score': 19.93}, {'connected_gene': 'ACSS1', 'score': 12.24}, {'connected_gene': 'VN1R108P', 'score': 5.39}, {'connected_gene': 'PYGB', 'score': 4.34}, {'connected_gene': 'RNU6-1257P', 'score': 0.37}]
chr20 GH20I025016 25016389 25019760 1.05 [{'connected_gene': 'APMAP', 'score': 19.25}, {'connected_gene': 'ACSS1', 'score': 12.39}, {'connected_gene': 'CST7', 'score': 10.09}, {'connected_gene': 'PIR53263', 'score': 0.34}]
chr20 GH20I025061 25061025 25062072 0.8 [{'connected_gene': 'VSX1', 'score': 8.18}, {'connected_gene': 'CST7', 'score': 5.94}, {'connected_gene': 'ENSG00000275358', 'score': 0.77}, {'connected_gene': 'ACSS1', 'score': 0.77}]
chr20 GH20I025147 25147714 25150676 0.85 [{'connected_gene': 'LOC284798', 'score': 556.2}, {'connected_gene': 'ENTPD6', 'score': 7.63}, {'connected_gene': 'VSX1', 'score': 7.03}, {'connected_gene': 'FAM182B', 'score': 5.83}, {'connected_gene': 'CST7', 'score': 5.0}, {'connected_gene': 'LOC391239', 'score': 0.23}]
chr20 GH20I024933 24933993 24934771 0.31 [{'connected_gene': 'RNU6-1257P', 'score': 11.85}, {'connected_gene': 'ACSS1', 'score': 10.87}, {'connected_gene': 'APMAP', 'score': 6.58}, {'connected_gene': 'LOC105372578', 'score': 0.44}, {'connected_gene': 'CST7', 'score': 0.39}]
chr20 GH20I024929 24929482 24932760 0.94 [{'connected_gene': 'LOC105372578', 'score': 550.77}, {'connected_gene': 'CST7', 'score': 19.99}, {'connected_gene': 'RNU6-1257P', 'score': 11.84}, {'connected_gene': 'ACSS1', 'score': 10.87}, {'connected_gene': 'APMAP', 'score': 8.38}, {'connected_gene': 'VN1R108P', 'score': 5.41}]
chr20 GH20I024957 24957263 24966432 1.01 [{'connected_gene': 'PIR45392', 'score': 550.77}, {'connected_gene': 'CST7', 'score': 21.89}, {'connected_gene': 'APMAP', 'score': 11.15}, {'connected_gene': 'ACSS1', 'score': 10.79}, {'connected_gene': 'VN1R108P', 'score': 5.43}]
chr20 GH20I025035 25035078 25041194 1.08 [{'connected_gene': 'PIR53263', 'score': 550.77}, {'connected_gene': 'ACSS1', 'score': 17.02}, {'connected_gene': 'CST7', 'score': 6.78}, {'connected_gene': 'APMAP', 'score': 5.86}]
chr20 GH20I025258 25258194 25259238 0.2 [{'connected_gene': 'PIR44667', 'score': 550.77}, {'connected_gene': 'ABHD12', 'score': 37.03}, {'connected_gene': 'FAM182B', 'score': 10.47}, {'connected_gene': 'CST7', 'score': 4.82}, {'connected_gene': 'ZNF337', 'score': 4.76}, {'connected_gene': 'ENSG00000274507', 'score': 0.44}, {'connected_gene': 'PYGB', 'score': 0.39}]